Predicted mutation
evidence	seq id	position	mutation	annotation	gene	description
MC JC	NC_000913_3_hsa_tpiA	3,815,859	Δ82 bp		[rph]–[rph]	[rph], [rph]

Missing coverage evidence...
			seq id	start	end	size	←reads	reads→	gene	description
*	*	÷	NC_000913_3_hsa_tpiA	3815859	3815940	82	40 [0]	[0] 40	[rph]–[rph]	[rph],[rph]

New junction evidence
		seq id	position	reads (cov)	reads (cov)	score	skew	freq	annotation	gene	product
*	?	NC_000913_3_hsa_tpiA	= 3815858	0 (0.000)	38 (0.940)	37/266	0.2	100%	pseudogene (24/48 nt)	rph	ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH
	?	NC_000913_3_hsa_tpiA	3815941 =	0 (0.000)					pseudogene (609/669 nt)	rph	ribonuclease PH (defective);enzyme; Degradation of RNA; RNase PH

AGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCATC  >  NC_000913_3_hsa_tpiA/3815797‑3816088                                                                                                                                                 |                                                                                                                                                    taacacctgcttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTcc                                                                                                                                                 >  1:216016‑M2/145‑149 (MQ=255)    cacctgcttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCt                                                                                                                                              <  2:135818‑M2/8‑1 (MQ=255)    cacctgcttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagagccgccttctacCGTCCCCt                                                                                                                                              >  1:203139‑M2/142‑149 (MQ=255)          cttgctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACtt                                                                                                                                        >  1:98139‑M2/136‑149 (MQ=255)             tctaatcgcaacttcaataaaccggcgctgatacggtttcatgcctccgctcctcatcttacttttctacagacaaaaaaaaggcgtttcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCaa                                                                                                                                     <  1:517396‑M2/17‑1 (MQ=255)              ctaagcgcaaattcaataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAat                                                                                                                                    <  2:397876‑M2/18‑1 (MQ=255)                aatcgcaaattccataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAatga                                                                                                                                  <  1:456091‑M2/20‑1 (MQ=255)                             ataaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagccaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTc                                                                                                                     >  1:483561‑M2/117‑149 (MQ=255)                              taaactggcgctgatatggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATCATGCGCCCGTCTTCg                                                                                                                    >  1:401979‑M2/116‑149 (MQ=255)                                             atggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATTCACCCGTCTTCGGTCATCACTAggtgc                                                                                                     >  1:291741‑M2/101‑147 (MQ=255)                                               ggtttcatgccttcgctcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCAt                                                                                                   >  1:287357‑M2/99‑149 (MQ=255)                                                gtttcatgccttcgcccctcatcttacttttccacagacaaaaaaaaggcgactcatccgtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATg                                                                                                  <  1:71515‑M2/52‑1 (MQ=255)                                                         cttcgcccctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCGGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTctct                                                                                         <  1:496390‑M2/61‑1 (MQ=255)                                                               tcctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCACGTCGGTCTCtccgcct                                                                                   >  2:375146‑M2/83‑146 (MQ=255)                                                                 ctcatcttacttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCaga                                                                                 <  1:696744‑M2/69‑1 (MQ=255)                                                                      cttacttttctacagagaaaaaaaaggcgactcatcagtcgccttaaaaatccgtttgccagcgccgccttctgcCTTCCCCTGCACTTCAATGATGCGCCCGTTTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCtt                                                                            <  2:715013‑M2/74‑1 (MQ=255)                                                                           ttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCg                                                                                               <  2:356026‑M2/55‑1 (MQ=255)                                                                           ttttctacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCg                                                                                               >  1:356026‑M2/71‑125 (MQ=255)                                                                                tacagacaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTc                                                                  >  1:615276‑M2/66‑149 (MQ=255)                                                                                  ccaacaaaaaaaaggcgactcatcagtcgcattaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCa                                                                <  2:490831‑M2/86‑1 (MQ=255)                                                                                     acaaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGAt                                                             >  1:425477‑M2/61‑149 (MQ=255)                                                                                       aaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCg                                                           >  1:744031‑M2/59‑149 (MQ=255)                                                                                       aaaaaaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCAAGATCg                                                           >  1:282198‑M2/59‑149 (MQ=255)                                                                                           aaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGt                                                                                                                         <  1:560584‑M2/29‑1 (MQ=255)                                                                                           aaaaggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGt                                                                                                                         >  2:560584‑M2/55‑83 (MQ=255)                                                                                              aggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAAcc                                                     >  2:579342‑M2/52‑148 (MQ=255)                                                                                              aggcgactcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAAcc                                                     <  1:579342‑M2/97‑1 (MQ=255)                                                                                                   actcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCACTGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTc                                                                  >  1:310322‑M2/47‑130 (MQ=255)                                                                                                   actcatcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCATGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTc                                                                  <  2:310322‑M2/84‑1 (MQ=255)                                                                                                      catcagtcgccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCg                                            <  2:216016‑M2/106‑1 (MQ=255)                                                                                                               ccttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAAtt                                   <  2:744031‑M2/115‑1 (MQ=255)                                                                                                                cttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTGCCTGATTCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTc                                  <  1:21486‑M2/116‑1 (MQ=255)                                                                                                                 ttaaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGGCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTcc                                 >  2:370878‑M2/33‑149 (MQ=255)                                                                                                                  taaaaatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCg                                >  1:498396‑M2/32‑149 (MQ=255)                                                                                                                   aaaaaccagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGa                               <  1:241371‑M2/119‑1 (MQ=255)                                                                                                                      aatcagtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCGTCAACGTATTCCAGATCGCAAACCGCTTAGCCGTTCACAATTCCAACAg                            >  1:555965‑M2/28‑149 (MQ=255)                                                                                                                           gtttgccagcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGCCAGAAACt                       >  1:75068‑M2/23‑149 (MQ=255)                                                                                                                                  agcgccgccttctgcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTa                >  1:491662‑M2/16‑149 (MQ=255)                                                                                                                                               gcCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCAt   <  1:39447‑M2/147‑1 (MQ=255)                                                                                                                                                cCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCAGCTACCATCCCTTTCATc  >  2:49860‑M2/2‑149 (MQ=255)                                                                                                                                                 |                                                                                                                                                    AGACAAAAAAAAGGCGACTCATCAGTCGCCTTAAAAATCAGTTTGCCAGCGCCGCCTTCTGCGTCGCTACAATGGATTCGATTCCCCTCGGGCCAGAGCCAACAAGATGAGTAGCTCTTCATGGGTGAACGGCTCGCCTTCTGCCGTCCCCTGCACTTCAATGATGCGCCCGTCTTCGGTCATCACTACGTTCATGTCGGTCTCTGCGGCAGAGTCTTCAACGTATTCCAGATCGCAAACCGCTTCGCCGTTCACAATTCCGACAGAAACTGCGGCTACCATCCCTTTCATC  >  NC_000913_3_hsa_tpiA/3815797‑3816088

Alignment Legend
Aligned base mismatch/match (shaded by quality score): ATCG/ATCG < 3 ≤ ATCG/ATCG < 12 ≤ ATCG/ATCG < 22 ≤ ATCG/ATCG < 37 ≤ ATCG/ATCG < 41 ≤ ATCG/ATCG
Unaligned base: atcg    Masked matching base: atcg    Alignment gap: ‑    Deleted base: ‑